Human pangenome: far-reaching implications in precision medicine
In May 2023, the Human Pangenome Reference Consortium (HPRC) released the first draft of the human pangenome reference…
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
Researchers from School of Basic Medicine Peking Union Medical College have conducted a study entitled “Panoramic variation analysis of a family…
Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
Newswise — Researchers from Peking Union Medical College and Chinese Academy of Medical Sciences have conducted a study entitled “Identification of…